Variant report

Variant	nsv518991
Chromosome Location	chr6:113760526-113799618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:113753759..113754729-chr6:113767071..113767994,2	MCF-7	breast:
2	chr6:113753858..113756059-chr6:113770303..113773626,3	MCF-7	breast:
3	chr6:113753938..113755617-chr6:113771103..113773814,2	MCF-7	breast:
4	chr6:113755353..113757884-chr6:113758152..113760628,2	MCF-7	breast:
5	chr6:113753134..113757391-chr6:113759557..113761652,4	MCF-7	breast:
6	chr6:113763198..113764987-chr6:114177471..114180396,2	MCF-7	breast:
7	chr6:113752685..113754255-chr6:113760032..113762327,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC2-13	chr6:113784898-113785193	NONHSAT114543
2	lnc-HDAC2-13	chr6:113790426-113790565	NONHSAT114543
3	lnc-HDAC2-13	chr6:113795769-113795839	NONHSAT114543

No data

Variant related genes	Relation type
ENSG00000232316	chromatin interactions
ENSG00000155130	chromatin interactions

Extended variants
information (count: 1528 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1033390	chr6:113760526-113760527	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546358912	chr6:113760532-113760533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186878380	chr6:113760546-113760547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564561187	chr6:113760576-113760577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528775135	chr6:113760584-113760585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546928766	chr6:113760620-113760621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568420164	chr6:113760644-113760645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140584364	chr6:113760670-113760671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188999264	chr6:113760677-113760678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551543439	chr6:113760700-113760701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567058082	chr6:113760717-113760718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57753189	chr6:113760735-113760736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114407732	chr6:113760752-113760753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558708264	chr6:113760758-113760759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554611885	chr6:113760774-113760775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570600647	chr6:113760789-113760790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138367859	chr6:113760791-113760792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149279811	chr6:113760821-113760822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570336902	chr6:113760826-113760827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574801040	chr6:113760852-113760853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181321191	chr6:113760857-113760858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540360980	chr6:113760860-113760861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367818057	chr6:113760868-113760869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527860823	chr6:113760880-113760881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs17075154	chr6:113760888-113760889	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575396365	chr6:113760932-113760933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185529010	chr6:113760940-113760941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564702404	chr6:113761025-113761026	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117552915	chr6:113761036-113761037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368864880	chr6:113761067-113761068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540835059	chr6:113761075-113761076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562014699	chr6:113761110-113761111	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559662808	chr6:113761123-113761124	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550544754	chr6:113761131-113761132	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146960925	chr6:113761142-113761143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117885234	chr6:113761155-113761156	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577914529	chr6:113761173-113761174	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116839586	chr6:113761177-113761178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373570756	chr6:113761182-113761183	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189895443	chr6:113761196-113761197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375165510	chr6:113761199-113761200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182460001	chr6:113761308-113761309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137982830	chr6:113761312-113761313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73543855	chr6:113761313-113761314	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556989476	chr6:113761319-113761320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9374399	chr6:113761324-113761325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539426143	chr6:113761331-113761332	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557531625	chr6:113761333-113761334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73768451	chr6:113761421-113761422	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540447739	chr6:113761522-113761523	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113755800-113767800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:113756200-113762800	Weak transcription	A549	lung
3	chr6:113761000-113761600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:113761200-113761600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:113761400-113761600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:113761400-113761800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:113761600-113762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:113761600-113762800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:113762600-113763600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:113762800-113763000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:113762800-113763000	Enhancers	A549	lung
12	chr6:113762800-113763200	Weak transcription	Placenta	Placenta
13	chr6:113763000-113763600	Weak transcription	A549	lung
14	chr6:113763200-113763400	Enhancers	Placenta	Placenta
15	chr6:113763400-113769000	Weak transcription	Placenta	Placenta
16	chr6:113763600-113763800	Enhancers	A549	lung
17	chr6:113763800-113768400	Weak transcription	A549	lung
18	chr6:113766000-113767000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:113767000-113768200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:113767800-113768400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:113767800-113769200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:113767800-113769200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:113767800-113770000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:113767800-113771600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:113767800-113772600	Enhancers	NHEK	skin
26	chr6:113768000-113771400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:113768000-113771600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:113768000-113771600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:113768000-113771600	Enhancers	NH-A	brain
30	chr6:113768000-113772200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:113768000-113772200	Enhancers	NHDF-Ad	bronchial
32	chr6:113768000-113772200	Enhancers	NHLF	lung
33	chr6:113768200-113768800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:113768200-113769200	Enhancers	Hela-S3	cervix
35	chr6:113768200-113771600	Enhancers	HUVEC	blood vessel
36	chr6:113768200-113771600	Enhancers	Osteobl	bone
37	chr6:113768200-113772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:113768400-113768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:113768400-113768800	Enhancers	A549	lung
40	chr6:113768400-113769000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:113768400-113769200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:113768400-113770400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:113768400-113772400	Enhancers	HMEC	breast
44	chr6:113768600-113769200	Enhancers	HSMMtube	muscle
45	chr6:113768600-113770000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:113768600-113772400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:113768600-113772400	Enhancers	HSMM	muscle
48	chr6:113768800-113770200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:113768800-113770400	Weak transcription	A549	lung
50	chr6:113768800-113771200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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